Emerging Concepts in Liquid Biopsies

Overview

Journal BMC Med

Publisher Biomed Central

Specialty General Medicine

Date 2017 Apr 7

PMID 28381299

Citations 129

Authors

Samantha Perakis

Michael R Speicher

Affiliations

Soon will be listed here.

Abstract

Characterizing and monitoring tumor genomes with blood samples could achieve significant improvements in precision medicine. As tumors shed parts of themselves into the circulation, analyses of circulating tumor cells, circulating tumor DNA, and tumor-derived exosomes, often referred to as "liquid biopsies", may enable tumor genome characterization by minimally invasive means. Indeed, multiple studies have described how molecular information about parent tumors can be extracted from these components. Here, we briefly summarize current technologies and then elaborate on emerging novel concepts that may further propel the field. We address normal and detectable mutation levels in the context of our current knowledge regarding the gradual accumulation of mutations during aging and in light of technological limitations. Finally, we discuss whether liquid biopsies are ready to be used in routine clinical practice.

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References

Miyamoto D, Zheng Y, Wittner B, Lee R, Zhu H, Broderick K . RNA-Seq of single prostate CTCs implicates noncanonical Wnt signaling in antiandrogen resistance. Science. 2015; 349(6254):1351-6. PMC: 4872391. DOI: 10.1126/science.aab0917. View

Alsop K, Thorne H, Sandhu S, Hamilton A, Mintoff C, Christie E . A community-based model of rapid autopsy in end-stage cancer patients. Nat Biotechnol. 2016; 34(10):1010-1014. DOI: 10.1038/nbt.3674. View

Heitzer E, Auer M, Gasch C, Pichler M, Ulz P, Hoffmann E . Complex tumor genomes inferred from single circulating tumor cells by array-CGH and next-generation sequencing. Cancer Res. 2013; 73(10):2965-75. DOI: 10.1158/0008-5472.CAN-12-4140. View

Mohan S, Heitzer E, Ulz P, Lafer I, Lax S, Auer M . Changes in colorectal carcinoma genomes under anti-EGFR therapy identified by whole-genome plasma DNA sequencing. PLoS Genet. 2014; 10(3):e1004271. PMC: 3967949. DOI: 10.1371/journal.pgen.1004271. View

Heitzer E, Ulz P, Belic J, Gutschi S, Quehenberger F, Fischereder K . Tumor-associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing. Genome Med. 2013; 5(4):30. PMC: 3707016. DOI: 10.1186/gm434. View

Navin N . Cancer genomics: one cell at a time. Genome Biol. 2014; 15(8):452. PMC: 4281948. DOI: 10.1186/s13059-014-0452-9. View

Ulz P, Thallinger G, Auer M, Graf R, Kashofer K, Jahn S . Inferring expressed genes by whole-genome sequencing of plasma DNA. Nat Genet. 2016; 48(10):1273-8. DOI: 10.1038/ng.3648. View

Lehmann-Werman R, Neiman D, Zemmour H, Moss J, Magenheim J, Vaknin-Dembinsky A . Identification of tissue-specific cell death using methylation patterns of circulating DNA. Proc Natl Acad Sci U S A. 2016; 113(13):E1826-34. PMC: 4822610. DOI: 10.1073/pnas.1519286113. View

Lynch M . Evolution of the mutation rate. Trends Genet. 2010; 26(8):345-52. PMC: 2910838. DOI: 10.1016/j.tig.2010.05.003. View

10.

Stratton M, Campbell P, Futreal P . The cancer genome. Nature. 2009; 458(7239):719-24. PMC: 2821689. DOI: 10.1038/nature07943. View

11.

Prasad V, Fojo T, Brada M . Precision oncology: origins, optimism, and potential. Lancet Oncol. 2016; 17(2):e81-e86. DOI: 10.1016/S1470-2045(15)00620-8. View

12.

Ni X, Zhuo M, Su Z, Duan J, Gao Y, Wang Z . Reproducible copy number variation patterns among single circulating tumor cells of lung cancer patients. Proc Natl Acad Sci U S A. 2013; 110(52):21083-8. PMC: 3876226. DOI: 10.1073/pnas.1320659110. View

13.

Lohr J, Adalsteinsson V, Cibulskis K, Choudhury A, Rosenberg M, Cruz-Gordillo P . Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer. Nat Biotechnol. 2014; 32(5):479-84. PMC: 4034575. DOI: 10.1038/nbt.2892. View

14.

Campbell P, Yachida S, Mudie L, Stephens P, Pleasance E, Stebbings L . The patterns and dynamics of genomic instability in metastatic pancreatic cancer. Nature. 2010; 467(7319):1109-13. PMC: 3137369. DOI: 10.1038/nature09460. View

15.

Carreira S, Romanel A, Goodall J, Grist E, Ferraldeschi R, Miranda S . Tumor clone dynamics in lethal prostate cancer. Sci Transl Med. 2014; 6(254):254ra125. PMC: 4422178. DOI: 10.1126/scitranslmed.3009448. View

16.

Bettegowda C, Sausen M, Leary R, Kinde I, Wang Y, Agrawal N . Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med. 2014; 6(224):224ra24. PMC: 4017867. DOI: 10.1126/scitranslmed.3007094. View

17.

Schwarzenbach H, Hoon D, Pantel K . Cell-free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer. 2011; 11(6):426-37. DOI: 10.1038/nrc3066. View

18.

Blokzijl F, de Ligt J, Jager M, Sasselli V, Roerink S, Sasaki N . Tissue-specific mutation accumulation in human adult stem cells during life. Nature. 2016; 538(7624):260-264. PMC: 5536223. DOI: 10.1038/nature19768. View

19.

Murtaza M, Dawson S, Pogrebniak K, Rueda O, Provenzano E, Grant J . Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer. Nat Commun. 2015; 6:8760. PMC: 4659935. DOI: 10.1038/ncomms9760. View

20.

Hoang M, Kinde I, Tomasetti C, McMahon K, Rosenquist T, Grollman A . Genome-wide quantification of rare somatic mutations in normal human tissues using massively parallel sequencing. Proc Natl Acad Sci U S A. 2016; 113(35):9846-51. PMC: 5024639. DOI: 10.1073/pnas.1607794113. View